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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Insrtm1Jja
targeted mutation 1, Jacques Jami
MGI:2149629
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Insrtm1Jja/Insrtm1Jja involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:2174961
cx2
Insrtm1Jja/Insrtm1Jja
Tg(PAH-INSR)1Rjv/0
involves: 129S2/SvPas * C57BL/6 * CBA * DBA/2 MGI:4410518


Genotype
MGI:2174961
hm1
Allelic
Composition
Insrtm1Jja/Insrtm1Jja
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insrtm1Jja mutation (0 available); any Insr mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within one week of birth

growth/size/body
• homozygous animals weighed 30 - 40% less than controls

homeostasis/metabolism
• plasma triglyceride levels were 6 fold higher than controls
• liver glycogen content could decrease 5 fold compared to controls
• plasma fatty acid concentrations visibly elevated
• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

liver/biliary system
• fatty infiltration of the liver was noted (J:32538)

muscle
• marked hypotrophy, apparent in days following birth

renal/urinary system
• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

adipose tissue
• reduction in adipose tissue

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Donohue syndrome DOID:0050470 OMIM:246200
J:32538




Genotype
MGI:4410518
cx2
Allelic
Composition
Insrtm1Jja/Insrtm1Jja
Tg(PAH-INSR)1Rjv/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * CBA * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insrtm1Jja mutation (0 available); any Insr mutation (60 available)
Tg(PAH-INSR)1Rjv mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutants die within 1 week after birth, although survival is prolonged to 8-20 days in 10% of pups compared to single Insr homozygotes

adipose tissue
• adipose tissue in the inguinal region is underdeveloped in longer surviving pups

growth/size/body
• pups surviving 8-20 days are smaller
• pups surviving 8-20 days weight 40-60% less than wild-type littermates at P10 and P17, respectively

homeostasis/metabolism
• pups with early diabetic ketoacidosis exhibit a 6-fold increase in serum glucose levels, however this level is less than in single Insr homozygotes
• pups with early diabetic ketoacidosis exhibit extremely reduced hepatic glycogen levels, whereas those pups with no ketoacidosis have almost normal levels
• 26/240 pups exhibit glycosuria, however development is delayed by more than a week compared to single Insr homozygotes
• pups with early diabetic ketoacidosis exhibit a 2.5-fold increase in triglyceride levels
• 26/240 pups develop ketoacidosis, although development is delayed by more than a week compared to single Insr homozygotes

liver/biliary system
• pups with early diabetic ketoacidosis exhibit hepatic steatosis, although development is delayed by more than a week compared to single Insr homozygotes

renal/urinary system
• 26/240 pups exhibit glycosuria, however development is delayed by more than a week compared to single Insr homozygotes
• 26/240 pups develop ketoacidosis, although development is delayed by more than a week compared to single Insr homozygotes





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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory